Fetal Alcohol Spectrum Disorders



Fetal Alcohol Spectrum Disorders


Yasmin Senturias

Carol C. Weitzman





  • I. Description of the problem. Fetal alcohol spectrum disorder (FASD) is an umbrella term that describes the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. Fetal alcohol syndrome (FAS) is a distinct cluster of facial dysmorphia, growth problems, and central nervous system (CNS) abnormalities associated with maternal alcohol use during pregnancy. Other categories within the spectrum include partial FAS, alcohol-related neurodevelopmental disorder, and alcohol-related birth defects (ARBD). The absence of facial dysmorphia does not guarantee that the CNS abnormalities are of less severity, and there is a significant continuum of impairment along the FASD spectrum. These effects can include physical, mental, behavioral, and/or learning disabilities that may have lifelong implications for individuals with FASD. FASD is considered the leading preventable cause of intellectual disability and developmental disabilities in the western world.



    • A. Epidemiology.



      • The Centers for Disease Control (CDC) reports FAS prevalence to be from 0.2 to 1.5 cases per 1000 live births but the broader profile of FASDs are reported to occur in up to 9 to 10 per 1000 live births, which translates to about 40,000 alcohol affected births per year in the United States.


      • FAS occurs in all racial and socioeconomic groups. Certain groups such as American Indians and Alaskan Natives have been documented to have prevalence rates of up to 3-5 cases per 1000 children. The foster care population has reported prevalence rates as high as 15 cases per 1000 children. FAS is also highly prevalent in the juvenile justice system with 200 per 1000 or a full 20% found to have either FAS or a related disorder. Alcohol consumption is a global public health issue and countries with high rates of alcohol consumption also have high rates of FAS. For example, in Russia, FAS among children in orphanages is estimated to be 15 cases per 1000 children. In South Africa, the birth prevalence for FAS has been reported to be as great as 41-46 cases per 1000 live births and as high as 4-7 cases per 1000 children in Italy.


    • B. Etiology/contributing factors.



      • 1. Dose. The more a pregnant woman drinks, the greater the risk of FAS. However, as reflected in the U.S. Surgeon General’s advisory, there is no known safe amount of alcohol during pregnancy Prenatal alcohol exposure to one or more drinks per day is associated with reduced birth weight and intrauterine growth retardation, spontaneous abortion, preterm delivery, and stillbirth.


      • 2. Pattern. Drinking patterns that create high peak blood alcohol level pose the greatest risk. Binge drinking is felt to be particularly risky. A binge is defined as the consumption of four alcoholic drinks per drinking occasion. One drink is defined as 12 oz of beer or wine cooler, 5 oz of wine, or 1.5 oz of liquor.


      • 3. Timing. First trimester exposure poses risks to major structures; second trimester exposure poses risk of spontaneous abortion; and third trimester exposure has the greatest impact on height, weight, and brain growth. However, no period of pregnancy appears to be safe for drinking since damage can occur at any point after conception. The brain can be affected by alcohol in all the three trimesters.


      • 4. Genetic sensitivity or effects of metabolism. There may be genetic differences in a woman’s ability to metabolize alcohol and in how a fetus is affected. The fetus is limited in its ability to metabolize alcohol and alcohol levels in the fetus are thought to be higher and present for a more prolonged period when compared with maternal levels.


      • 5. Maternal nutrition. Alcohol intake can have direct or indirect effects on the nutritional status of the fetus either because alcohol abusers often have a poor diet or because alcohol can interfere with the absorption or processing of nutrients such as thiamine, magnesium, zinc, and folate.


      • 6. Maternal age. Children of mothers who are older than 30 years have a higher risk of negative outcomes following prenatal alcohol exposure.



      • 7. Parity. Studies suggest that the risk of having a child with FAS increases with each successive pregnancy. The rate increases from 0.2-1.5/1000 to 771/1000 live births for the younger sibling of a child with FAS.


  • II. Making the diagnosis.



    • A. Signs and symptoms. The FAS diagnosis requires all three of the following:



      • 1. Documentation of three facial abnormalities; smooth philtrum, thin vermillion border, and small palpebral fissures. These features should be assessed using a standardized method such as the University of Washington Lip-Philtrum Guide (www.fasdpn.org) and a palpebral fissure normogram standardized for age and racial norms.


      • 2. Documentation of growth deficits (weight and/or length, at or below the 10th percentile). The CDC guidelines state that the weight or height growth deficit can occur at anytime beginning in the prenatal period (adjusted for age, sex, gestational age, and race/ethnicity).


      • 3. Documentation of CNS abnormality (structural, neurological, or functional) CNS abnormalities may be structural, neurological, or functional. Structural abnormalities have been described in a number of ways and include the following: (1) The CDC 2004 Guidelines includes a head size at or below 10th percentile adjusted for age and sex, (2) the University of Washington Diagnostic Guide includes microcephaly or an occipital-frontal circumference less than two standard deviations, and/or (3) abnormalities on neuroimaging that are believed to have occurred prenatally (e.g., reduction in size of corpus callosum, cerebellum, or basal ganglia). Neurological findings include seizures not attributable to postnatal insults or fever, poor coordination, or visual motor difficulties. CNS dysfunction includes deficits in cognition, executive function, motor function, attentional control, social skills, adaptive skills, memory, and language, among others. There can be a wide range of severity of these challenges. About 25% of children with FAS have IQs below 70. Those who have higher IQs may have persistent neurobehavioral problems that result in learning difficulties (e.g., mathematics disorder), poor comprehension, slow processing speed, sleep disorders, cognitive rigidity, and impaired problem-solving abilities. The relatively higher IQs of these individuals, coupled with absence of gross facial dysmorphology, makes them more prone to be labeled as aggressive, oppositional, willful, or lazy rather than neurobehaviorally challenged.


      • 4. Documentation of alcohol exposure. Although it is important to document alcohol exposure, this is often difficult to obtain. Birth mothers may be hesitant to provide the information, and when the child is adopted, exposure to prenatal alcohol may be unknown. When the FAS diagnostic criteria is met on the basis of the characteristic facial growth and CNS abnormalities, confirmation of maternal alcohol exposure is helpful but not essential for the diagnosis. There are clinical criteria to identify the other FASDs, but for the individuals who do not meet full facial growth and CNS criteria for FAS, there should always be confirmed prenatal alcohol exposure.


    • B. Differential diagnosis. A careful history that includes maternal alcohol use is needed to differentiate the effects of alcohol from those of other teratogens. There could also be growth retardation, facial dysmorphology, and/or CNS disturbance in other disorders such as fetal valproate syndrome, fetal hydantoin syndrome, maternal phenylketonuria (PKU), and velocardiofacial syndrome. It may be helpful to consult with a geneticist if questions about alternative or comorbid diagnoses arise. It is also important to rule out other problems that can contribute to the CNS dysfunction, such as early negative child experiences, comorbid mental illness, etc.


    • C. History: key clinical questions.

Jun 22, 2016 | Posted by in PEDIATRICS | Comments Off on Fetal Alcohol Spectrum Disorders

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